scholarly journals Sarcoglycanopathy - a rare case report and literature review

2015 ◽  
Vol 22 (2) ◽  
pp. 232-235
Author(s):  
Ekramul Mustafa ◽  
Md Azizul Hasan Khandaker ◽  
Md Mamunur Rashid ◽  
Swapon Kumar Ghose ◽  
Masood Salehin ◽  
...  
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Muscular Dystrophies ◽  
Recessive Inheritance ◽  
Rare Entity ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Medical College ◽  
Rare Case Report

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as á, â, ã, or ä sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies and are caused by mutations in any of the four sarcoglycan genes: alpha (LGMD 2D), beta (LGMD 2E), gamma (LGMD 2C) and delta (LGMD 2F). The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from Bangladesh are scarce. We report a rare case of primary sarcoglycanopathy (SGP) which emphasizes the evolving concept of “dystrophinopathy to sarco-glycanopathy”. and describe literature pertaining to this rare entity DOI: http://dx.doi.org/10.3329/jdmc.v22i2.21551 J Dhaka Medical College, Vol. 22, No.2, October, 2013, Page 232-235

scholarly journals Sarcoglycanopathy - A Rare Case Report and Literature Review

2014 ◽  
Vol 15 (1) ◽  
pp. 77-79
Author(s):  
Ekramul Mustafa ◽  
Md. Azizul Hasan Khandaker ◽  
Md. Mamunur Rashid ◽  
Swapon Kumar Ghose ◽  
Mostofa Kamal Chowdhury
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Muscular Dystrophies ◽  
Recessive Inheritance ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Rare Case Report

Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance designated as a, b, g, or d sarcoglycanopath.; which belong to the group of limb girdle muscular dystrophies (LGMD) and are caused by mutations in any of the four sarcoglycan genes: alpha (LGMD 2D), beta (LGMD 2E), gamma (LGMD 2C) and delta (LGMD 2F). The phenotype resembles dystrophinopathies due to proximal muscle weakness and calf hypertrophy. Reports from Bangladesh are scarce. We report a rare case of primary sarcoglycanopathy (SGP) which emphasizes the evolving concept of “dystrophinopathy to sarco-glycanopathy” and describe literature pertaining to this rare entity.DOI: http://dx.doi.org/10.3329/jom.v15i1.19880 J Medicine 2014; 15: 77-79

scholarly journals Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report

2018 ◽  
Vol 6 (1) ◽  
pp. 212
Author(s):  
Shaik M. Rafi ◽  
Sravya S. Sreekantham ◽  
Kedarnath R. Tumati
Keyword(s):  
Case Report ◽  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Female Child ◽  
Lower Limbs ◽  
Laboratory Evaluation ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Rare Form ◽  
Rare Case Report

Severe Childhood Autosomal Recessive Muscular Dystrophy (SCARMD) is a variant of sarcoglycanopathy resulting from mutation in the sarcoglycan genes. SCARMD is a rare form of muscular dystrophy characterised by severe DMD like phenotype occurring at early ages and affecting boys as well as girls. Here we are reporting a case of 7year old female child born to 3rd degree consanguineous parents presented with proximal muscle weakness beginning in both lower limbs since4 years of age. On thorough clinical examination and laboratory evaluation child turned out to be SCARMD. Hence this case report emphasizes that suspicion of SCARMD has to be made when female children presented with features of DMD, and genetic counselling and prenatal diagnosis should be done to reduce the burden of the disease in the community.

scholarly journals Hereditary Anhidrotic Ectodermal Dysplasia - A case report

2014 ◽  
Vol 5 (1) ◽  
pp. 51-53
Author(s):  
Mumtahina Setu ◽  
Syed Khairul Amin ◽  
Kuntol Roy ◽  
SM Nahid Morshed
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Sweat Glands ◽  
Recessive Inheritance ◽  
Nail Dystrophy ◽  
Medical College ◽  
Palmoplantar Hyperkeratosis ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Ectodermal dysplasia is a rare genetic disorder and X-linked recessive inheritance is most commonly seen. But we are reporting a rare case of autosomal recessive inheritance of Ectodermal dysplasia in here. DOI: http://dx.doi.org/10.3329/akmmcj.v5i1.18845 Anwer Khan Modern Medical College Journal Vol. 5, No. 1: January 2014, Pages 51-53

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly

scholarly journals Dysgenetic Polycystic Disease of Minor Salivary Gland: A Rare Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-5
Author(s):  
N. Srikant ◽  
Shweta Yellapurkar ◽  
Karen Boaz ◽  
Mohan Baliga ◽  
Nidhi Manaktala ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Salivary Gland ◽  
Case Report ◽  
Rare Case ◽  
Minor Salivary Gland ◽  
Rare Entity ◽  
Review Of The Literature ◽  
Lower Lip ◽  
Polycystic Disease ◽  
Rare Case Report

Polycystic (dysgenetic) disease of the salivary glands is a rare entity that has only recently been described in the literature. The disease is more commonly seen in females and majority of the cases have presented as bilateral parotid gland swellings. This case presenting in a 21-year-old male is the first of this unusual entity involving solely the minor salivary gland on the lower lip. This case report highlights the importance for the clinician to be aware of this differential diagnosis, when treating an innocuous lesion like a mucocele.

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